Iron chelation therapy in aceruloplasminaemia: Study of a patient with a novel missense mutation

R. Mariani, C. Arosio, S. Pelucchi, M. Grisoli, A. Piga, P. Trombini, A. Piperno

Research output: Contribution to journalArticle

43 Citations (Scopus)

Abstract

We describe a novel missense mutation of ceruloplasmin in a patient with aceruloplasminaemia causing the replacement of a neutral amino acid (phenylalanine) with a polar one (serine) at position 198, probably leading to abnormal folding and secretion of the protein. The patient showed mild microcytic anaemia, mild hepatic iron overload, and marked brain iron overload. Six months of therapy with deferiprone was ineffective in removing iron from the tissues. Deferoxomine was more efficient in removing excess iron from the liver but aggravated the disease related anaemia. After more than one year of chelation treatment, the brain magnetic resonance imaging signal did not change. Overall, these findings indicate that treatment of iron overload in aceruloplasminaemia is a difficult challenge and that new iron chelators, more efficient in crossing the blood-brain barrier, are needed.

Original languageEnglish
Pages (from-to)756-758
Number of pages3
JournalGut
Volume53
Issue number5
DOIs
Publication statusPublished - May 2004

Fingerprint

Chelation Therapy
Iron Overload
Missense Mutation
Iron
Anemia
Neutral Amino Acids
Ceruloplasmin
Protein Folding
Brain
Chelating Agents
Blood-Brain Barrier
Phenylalanine
Serine
Liver Diseases
Therapeutics
Magnetic Resonance Imaging
Liver
Familial apoceruloplasmin deficiency

ASJC Scopus subject areas

  • Gastroenterology

Cite this

Mariani, R., Arosio, C., Pelucchi, S., Grisoli, M., Piga, A., Trombini, P., & Piperno, A. (2004). Iron chelation therapy in aceruloplasminaemia: Study of a patient with a novel missense mutation. Gut, 53(5), 756-758. https://doi.org/10.1136/gut.2003.030429

Iron chelation therapy in aceruloplasminaemia : Study of a patient with a novel missense mutation. / Mariani, R.; Arosio, C.; Pelucchi, S.; Grisoli, M.; Piga, A.; Trombini, P.; Piperno, A.

In: Gut, Vol. 53, No. 5, 05.2004, p. 756-758.

Research output: Contribution to journalArticle

Mariani, R, Arosio, C, Pelucchi, S, Grisoli, M, Piga, A, Trombini, P & Piperno, A 2004, 'Iron chelation therapy in aceruloplasminaemia: Study of a patient with a novel missense mutation', Gut, vol. 53, no. 5, pp. 756-758. https://doi.org/10.1136/gut.2003.030429
Mariani, R. ; Arosio, C. ; Pelucchi, S. ; Grisoli, M. ; Piga, A. ; Trombini, P. ; Piperno, A. / Iron chelation therapy in aceruloplasminaemia : Study of a patient with a novel missense mutation. In: Gut. 2004 ; Vol. 53, No. 5. pp. 756-758.
@article{fbe3a81dfeed473b8466a5b3e30fb1cb,
title = "Iron chelation therapy in aceruloplasminaemia: Study of a patient with a novel missense mutation",
abstract = "We describe a novel missense mutation of ceruloplasmin in a patient with aceruloplasminaemia causing the replacement of a neutral amino acid (phenylalanine) with a polar one (serine) at position 198, probably leading to abnormal folding and secretion of the protein. The patient showed mild microcytic anaemia, mild hepatic iron overload, and marked brain iron overload. Six months of therapy with deferiprone was ineffective in removing iron from the tissues. Deferoxomine was more efficient in removing excess iron from the liver but aggravated the disease related anaemia. After more than one year of chelation treatment, the brain magnetic resonance imaging signal did not change. Overall, these findings indicate that treatment of iron overload in aceruloplasminaemia is a difficult challenge and that new iron chelators, more efficient in crossing the blood-brain barrier, are needed.",
author = "R. Mariani and C. Arosio and S. Pelucchi and M. Grisoli and A. Piga and P. Trombini and A. Piperno",
year = "2004",
month = "5",
doi = "10.1136/gut.2003.030429",
language = "English",
volume = "53",
pages = "756--758",
journal = "Gut",
issn = "0017-5749",
publisher = "BMJ Publishing Group",
number = "5",

}

TY - JOUR

T1 - Iron chelation therapy in aceruloplasminaemia

T2 - Study of a patient with a novel missense mutation

AU - Mariani, R.

AU - Arosio, C.

AU - Pelucchi, S.

AU - Grisoli, M.

AU - Piga, A.

AU - Trombini, P.

AU - Piperno, A.

PY - 2004/5

Y1 - 2004/5

N2 - We describe a novel missense mutation of ceruloplasmin in a patient with aceruloplasminaemia causing the replacement of a neutral amino acid (phenylalanine) with a polar one (serine) at position 198, probably leading to abnormal folding and secretion of the protein. The patient showed mild microcytic anaemia, mild hepatic iron overload, and marked brain iron overload. Six months of therapy with deferiprone was ineffective in removing iron from the tissues. Deferoxomine was more efficient in removing excess iron from the liver but aggravated the disease related anaemia. After more than one year of chelation treatment, the brain magnetic resonance imaging signal did not change. Overall, these findings indicate that treatment of iron overload in aceruloplasminaemia is a difficult challenge and that new iron chelators, more efficient in crossing the blood-brain barrier, are needed.

AB - We describe a novel missense mutation of ceruloplasmin in a patient with aceruloplasminaemia causing the replacement of a neutral amino acid (phenylalanine) with a polar one (serine) at position 198, probably leading to abnormal folding and secretion of the protein. The patient showed mild microcytic anaemia, mild hepatic iron overload, and marked brain iron overload. Six months of therapy with deferiprone was ineffective in removing iron from the tissues. Deferoxomine was more efficient in removing excess iron from the liver but aggravated the disease related anaemia. After more than one year of chelation treatment, the brain magnetic resonance imaging signal did not change. Overall, these findings indicate that treatment of iron overload in aceruloplasminaemia is a difficult challenge and that new iron chelators, more efficient in crossing the blood-brain barrier, are needed.

UR - http://www.scopus.com/inward/record.url?scp=2342434172&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=2342434172&partnerID=8YFLogxK

U2 - 10.1136/gut.2003.030429

DO - 10.1136/gut.2003.030429

M3 - Article

C2 - 15082597

AN - SCOPUS:2342434172

VL - 53

SP - 756

EP - 758

JO - Gut

JF - Gut

SN - 0017-5749

IS - 5

ER -